TABLE 3.
Etiology in 116 cases of epilepsy with onset before 2 years
| Etiology |
Onset age <12 mo, n (%) |
Onset age >12 mo, n (%) |
All cases, onset age <24 mo, n (%) |
West syndrome n (%)[%] i |
|---|---|---|---|---|
| Structural a | 29 (33) | 10 (36) | 39 (34) | 14 (42)[36] |
| Cerebral malform b | 11 (13) | 5 (18) | 16 (14) | 4 (12)[25] |
| Tuberous sclerosis c | 5 (5.7) | 0 | 5 (4.3) | 3 (9.1)[60] |
| Asphyxia | 8 (9.1) | 2 (7.1) | 10 (8.6) | 4 (12)[40] |
| Stroke | 4 (4.5) | 1 (3.6) | 5 (4.3) | 2 (6.1)[40] |
| PVL/PVH preterm | 1 (1.1) | 0 | 1 (0.9) | 1 (3.0)[100] |
| Trauma | 0 | 2 (7.1) | 2 (1.7) | 0 |
| Metabolic disease d | 9 (10) | 1 (3.6) | 10 (8.6) | 3 (9.1)[30] |
| Infectious | 3 (3.4) | 0 | 3 (2.6) | 1 (3.0)[33] |
| Immune | 0 | 0 | 0 | 0 |
| Underlying condition e | 41 (47) | 11 (39) | 52 (45) | 18 (55)[35] |
| Genetic, confirmed and no underlying condition f | 14 (16) | 3 (11) | 17 (15) | 6 (18)[35] |
| Monogenic epilepsy | 9 (10) | 3 (11) | 12 (10) | 2 (6.1)[17] |
| Chromosomal syndr. | 5 (5.7) | 0 | 5 (4.3) | 4 (12)[80] |
| Known, total | 55 (62) | 14 (50) | 69 (59) | 24 (73)[35] |
| Unknown | 33 (38) | 14 (50) | 47 (41) | 9 (27)[19] |
| Total | 88 (100) | 28 (100) | 116 (100) | 33 (100)[28] |
| Genetic, confirmed with structural/metabolic | 16 (18) | 1 (3.6) | 17 (15) | 5 (15)[29] |
| Genetic, all confirmed | 30 (34) | 4 (14) | 34 (29) | 11 (33)[32] |
| Genetic, presumed g | 7 (8.0) | 5 (18) | 12 (10) | 2 (6.1)[17] |
| Structural/metabolic | 5 (5.7) | 1 (3.6) | 6 (5.2) | 2 (6.1)[33] |
| Familial syndrome | 2 (2.3) | 4 (14) | 6 (5.2) | 0 |
| Genetic, confirmed and presum., no underlying h | 16 (18) | 7 (25) | 23 (20) | 6 (18)[26] |
| Genetic, all confirmed and presumed | 32 (44) | 9 (32) | 46 (40) | 13 (39)[28] |
| Known total, including presumed genetic | 57 (65) | 18 (64) | 75 (65) | 24 (73)[32] |
[Correction added on October 10, 2020, after first online publication: the indent has been applied to "Monogenic epilepsy", "Chromosomal syndr.", "Structural/metabolic" and "Familial syndrome" since, they are subcategories.]
10/39 confirmed genetic cause.
8/16 confirmed genetic.
2/5 confirmed genetic.
7/10 confirmed genetic.
Structural + metabolic + infectious + immune.
No underlying structural or metabolic condition.
Cases of tuberous sclerosis (3), metabolic disease (3), BFIE (2) and GEFS+ (4), without revealed mutations.
Confirmed genetic without underlying structural or metabolic condition plus familial cases of BFIE and GEFS+, for comparison with other studies.
[%] = % of etiology.